ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.777C>T (p.Ile259=)

gnomAD frequency: 0.00001  dbSNP: rs752829826
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002202646 SCV002356768 likely benign Hyperphosphatasia with intellectual disability syndrome 2 2023-06-16 criteria provided, single submitter clinical testing

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